FAH[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 317197	NM_000137.2(FAH):c.-67C>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GUncertain significance
Select item 317198	NM_000137.2(FAH):c.-63C>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GUncertain significance
Select item 317199	NM_000137.4(FAH):c.-43G>T	FAH	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 888479	NM_000137.4(FAH):c.-40C>G	FAH	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type I	GUncertain significance
Select item 317200	NM_000137.4(FAH):c.-34C>T	FAH	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type I +2 more	GBenign
Select item 317201	NM_000137.4(FAH):c.-23A>C	FAH	Single nucleotide variant (5 prime UTR variant)	Tyrosinemia type I	GUncertain significance
Select item 513238	NM_000137.4(FAH):c.-7C>T	FAH	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 1066042	NM_000137.4(FAH):c.1A>C (p.Met1Leu)	FAH (M1L)	Single nucleotide variant (missense variant +1 more)	Tyrosinemia type I	GLikely pathogenic
Select item 372766	NM_000137.4(FAH):c.1A>G (p.Met1Val)	FAH (M1V)	Single nucleotide variant (missense variant +1 more)	Tyrosinemia type I +2 more	GPathogenic
Select item 371005	NM_000137.4(FAH):c.2T>A (p.Met1Lys)	FAH (M1K)	Single nucleotide variant (missense variant +1 more)	Tyrosinemia type I	GLikely pathogenic
Select item 950962	NM_000137.4(FAH):c.3G>A (p.Met1Ile)	FAH (M1I)	Single nucleotide variant (missense variant +1 more)	Tyrosinemia type I	GPathogenic
Select item 753610	NM_000137.4(FAH):c.9C>T (p.Phe3=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 968723	NM_000137.4(FAH):c.10A>C (p.Ile4Leu)	FAH (I4L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely benign
Select item 371526	NM_000137.4(FAH):c.14del (p.Pro5fs)	FAH (P5fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 2988118	NM_000137.4(FAH):c.15G>A (p.Pro5=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1949976	NM_000137.4(FAH):c.21C>T (p.Ala7=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1005722	NM_000137.4(FAH):c.23A>C (p.Glu8Ala)	FAH (E8A)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 1082613	NM_000137.4(FAH):c.30C>T (p.Ser10=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1575012	NM_000137.4(FAH):c.33C>T (p.Asp11=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2811930	NM_000137.4(FAH):c.34T>C (p.Phe12Leu)	FAH (F12L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 3065539	NM_000137.4(FAH):c.36C>A (p.Phe12Leu)	FAH (F12L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 1451234	NM_000137.4(FAH):c.38C>T (p.Pro13Leu)	FAH (P13L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic
Select item 11865	NM_000137.4(FAH):c.47A>T (p.Asn16Ile)	FAH (N16I)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 1635010	NM_000137.4(FAH):c.48C>T (p.Asn16=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1540176	NM_000137.4(FAH):c.49C>T (p.Leu17=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 763927	NM_000137.4(FAH):c.51G>A (p.Leu17=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2108874	NM_000137.4(FAH):c.52C>G (p.Pro18Ala)	FAH (P18A)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 989357	NM_000137.4(FAH):c.53C>T (p.Pro18Leu)	FAH (P18L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GLikely pathogenic
Select item 1101259	NM_000137.4(FAH):c.54C>A (p.Pro18=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2170717	NM_000137.4(FAH):c.59G>A (p.Gly20Asp)	FAH (G20D)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 1141759	NM_000137.4(FAH):c.60C>A (p.Gly20=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1685807	NM_000137.4(FAH):c.61G>T (p.Val21Phe)	FAH (V21F)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic
Select item 1116726	NM_000137.4(FAH):c.63C>T (p.Val21=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1928518	NM_000137.4(FAH):c.72_81dup (p.Pro28fs)	FAH (P28fs)	Duplication (frameshift variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 2752516	NM_000137.4(FAH):c.69G>A (p.Ser23=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1160213	NM_000137.4(FAH):c.72C>T (p.Thr24=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2177624	NM_000137.4(FAH):c.79G>C (p.Asp27His)	FAH (D27H)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 2429395	NM_000137.4(FAH):c.81+1G>C	FAH	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1522883	NM_000137.4(FAH):c.81+2T>G	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 402229	NM_000137.4(FAH):c.81+2T>A	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 370962	NM_000137.4(FAH):c.81+2T>C	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 317202	NM_000137.4(FAH):c.81+8G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GConflicting classifications of pathogenicity
Select item 1953150	NM_000137.4(FAH):c.81+9T>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 1095842	NM_000137.4(FAH):c.81+10G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 317203	NM_000137.4(FAH):c.81+12G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 2840291	NM_000137.4(FAH):c.81+16T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2846517	NM_000137.4(FAH):c.81+17T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 255283	NM_000137.4(FAH):c.81+38dup	FAH	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1262029	NM_000137.4(FAH):c.81+39_81+57del	FAH	Deletion (intron variant)	not provided	GBenign
Select item 1172733	NM_000137.4(FAH):c.82-74T>C	FAH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2722503	NM_000137.4(FAH):c.82-20C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2709259	NM_000137.4(FAH):c.82-19G>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 380447	NM_000137.4(FAH):c.82-19G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +2 more	GBenign
Select item 2892276	NM_000137.4(FAH):c.82-16G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 514402	NM_000137.4(FAH):c.82-14C>T	FAH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 92446	NM_000137.4(FAH):c.82-13G>A	FAH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2725310	NM_000137.4(FAH):c.82-11C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2850141	NM_000137.4(FAH):c.82-5_82-3del	FAH	Microsatellite (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2746460	NM_000137.4(FAH):c.82-5C>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 1648537	NM_000137.4(FAH):c.82-5C>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 2127712	NM_000137.4(FAH):c.82-4C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I	GLikely benign
Select item 1388524	NM_000137.4(FAH):c.82-3T>C	FAH	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2839356	NM_000137.4(FAH):c.82-1G>C	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GLikely pathogenic
Select item 551853	NM_000137.4(FAH):c.82-1G>A	FAH	Single nucleotide variant (splice acceptor variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 635516	NM_000137.4(FAH):c.82_83del (p.Pro28fs)	FAH (P28fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 1955961	NM_000137.4(FAH):c.87A>G (p.Arg29=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 884250	NM_000137.4(FAH):c.89C>T (p.Pro30Leu)	FAH (P30L)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 1119061	NM_000137.4(FAH):c.90G>A (p.Pro30=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 317204	NM_000137.4(FAH):c.90G>C (p.Pro30=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GConflicting classifications of pathogenicity
Select item 1073240	NM_000137.4(FAH):c.96dup (p.Gly33fs)	FAH (G33fs)	Duplication (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 3010215	NM_000137.4(FAH):c.102G>A (p.Val34=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1300235	NM_000137.4(FAH):c.103G>A (p.Ala35Thr)	FAH (A35T)	Single nucleotide variant (missense variant)	Tyrosinemia type I	Gnot provided
Select item 430378	NM_000137.4(FAH):c.107T>C (p.Ile36Thr)	FAH (I36T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 317205	NM_000137.4(FAH):c.109G>A (p.Gly37Ser)	FAH (G37S)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 2675359	NM_000137.4(FAH):c.115dup (p.Gln39fs)	FAH (Q39fs)	Duplication (frameshift variant)	Tyrosinemia type I	GLikely pathogenic
Select item 2992401	NM_000137.4(FAH):c.120C>T (p.Ile40=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1354594	NM_000137.4(FAH):c.122T>C (p.Leu41Pro)	FAH (L41P)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GPathogenic/Likely pathogenic
Select item 1117622	NM_000137.4(FAH):c.126C>T (p.Asp42=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2833957	NM_000137.4(FAH):c.128T>C (p.Leu43Pro)	FAH (L43P)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 2694069	NM_000137.4(FAH):c.129C>G (p.Leu43=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1971773	NM_000137.4(FAH):c.129C>T (p.Leu43=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2797613	NM_000137.4(FAH):c.132C>T (p.Ser44=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 291148	NM_000137.4(FAH):c.133A>G (p.Ile45Val)	FAH (I45V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 594979	NM_000137.4(FAH):c.134T>C (p.Ile45Thr)	FAH (I45T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1131670	NM_000137.4(FAH):c.138C>T (p.Ile46=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 317206	NM_000137.4(FAH):c.139A>G (p.Lys47Glu)	FAH (K47E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 501161	NM_000137.4(FAH):c.141G>A (p.Lys47=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 317207	NM_000137.4(FAH):c.147C>G (p.Leu49=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GConflicting classifications of pathogenicity
Select item 680356	NM_000137.4(FAH):c.150T>C (p.Phe50=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 1684720	NM_000137.4(FAH):c.155G>T (p.Gly52Val)	FAH (G52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1006295	NM_000137.4(FAH):c.155G>A (p.Gly52Asp)	FAH (G52D)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GUncertain significance
Select item 2983752	NM_000137.4(FAH):c.162C>T (p.Val54=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 2918622	NM_000137.4(FAH):c.165C>G (p.Leu55=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 380509	NM_000137.4(FAH):c.165C>T (p.Leu55=)	FAH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 317208	NM_000137.4(FAH):c.167C>T (p.Ser56Phe)	FAH (S56F)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GUncertain significance
Select item 697515	NM_000137.4(FAH):c.181G>T (p.Val61Phe)	FAH (V61F)	Single nucleotide variant (missense variant)	Tyrosinemia type I	GBenign/Likely benign
Select item 2113610	NM_000137.4(FAH):c.189T>C (p.Asn63=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I	GLikely benign
Select item 1453896	NM_000137.4(FAH):c.191del (p.Gln64fs)	FAH (Q64fs)	Deletion (frameshift variant)	Tyrosinemia type I	GPathogenic
Select item 21054	NM_000137.4(FAH):c.192G>T (p.Gln64His)	FAH (Q64H)	Single nucleotide variant (missense variant)	T-substance anomaly +3 more	GPathogenic
Select item 3241522	NM_000137.4(FAH):c.192+1G>C	FAH	Single nucleotide variant (splice donor variant)	Tyrosinemia type I	GLikely pathogenic

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